Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Jonathan H Sheehan"'
Autor:
Kimberly M. Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K. Pivnick, David Rinker, Jonathan H. Sheehan, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Lynette Rives, Serena Neumann, Brian Corner, Mary Koziura, John A. Phillips, III
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101145- (2024)
Autosomal dominant congenital disorder of glycosylation (CDG) type Iw (OMIM# 619714) is caused by a heterozygous mutation in the STT3A gene. Most CDGs have an autosomal recessive (AR) mode of inheritance, but several cases with an autosomal dominant
Externí odkaz:
https://doaj.org/article/115228e2c35b4a0a9e2f7b38a2c25666
Autor:
Rory J. Tinker, Tiffany Guess, David C. Rinker, Jonathan H. Sheehan, Daniel Lubarsky, Binu Porath, Mackenzie Mosera, Ping Mayo, Emily Solem, Laura A. Lee, Asha Sarma, Jennifer Brault
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Background A de novo, pathogenic, missense variant in UBTF, c.628G>A p.Glu210Lys, has been described as the cause of an emerging neurodegenerative disorder, Childhood‐Onset Neurodegeneration with Brain Atrophy (CONDBA). The p.Glu210Lys alt
Externí odkaz:
https://doaj.org/article/b91ff5b22f1346b884bf9f230a6e5293
Autor:
Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen, Christopher W. Moth, David C. Rinker, Jonathan H. Sheehan, Joy D. Cogan, John H. Newman, Rizwan Hamid, Robert L. Macdonald, Dan M. Roden, Jens Meiler, Georg Kuenze, John A. Phillips, John A. Capra
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100131- (2022)
Summary: Whole-exome sequencing (WES) in the clinic has identified several rare monogenic developmental and epileptic encephalopathies (DEE) caused by ion channel variants. However, WES often fails to provide actionable insight for rare diseases, suc
Externí odkaz:
https://doaj.org/article/80f15d97adae43d6b743ecd6b1a9570f
Autor:
R. Michael Sivley, Jonathan H. Sheehan, Jonathan A. Kropski, Joy Cogan, Timothy S. Blackwell, John A. Phillips, William S. Bush, Jens Meiler, John A. Capra
Publikováno v:
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract Background Next-generation sequencing of individuals with genetic diseases often detects candidate rare variants in numerous genes, but determining which are causal remains challenging. We hypothesized that the spatial distribution of missen
Externí odkaz:
https://doaj.org/article/921b6605636e476a9b2c86243d77a6f2
Autor:
John H. Newman, Aaron Shaver, Jonathan H. Sheehan, Simon Mallal, John H. Stone, Shiv Pillai, Lisa Bastarache, Derek Riebau, Hugues Allard‐Chamard, William M. Stone, Cory Perugino, Mark Pilkinton, Scott A. Smith, Wyatt J. McDonnell, John A. Capra, Jens Meiler, Joy Cogan, Kelly Xing, Vinay S. Mahajan, Hamid Mattoo, Rizwan Hamid, John A. Phillips III, Undiagnosed Disease Network
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background Family screening of a 48‐year‐old male with recently diagnosed IgG4‐related disease (IgG4‐RD) revealed unanticipated elevations in plasma IgG4 in his two healthy teenaged sons. Methods We performed gene sequencing, immune
Externí odkaz:
https://doaj.org/article/7d27b37a38a5486a8c7787aedad0a835
Autor:
Christine M. Lovly, Siraj M. Ali, Vincent A. Miller, Philip J. Stephens, Jeffrey S. Ross, Deborah Morosini, Jens Meiler, Jonathan H. Sheehan, Yingjun Yan, Heidi Chen, Andrew Whiteley, Tiziana Vavalà, Beth Eaby-Sandy, Satyanarayan K. Reddy, Suresh S. Ramalingam, Vijay Peddareddigari, Taofeek K. Owonikoko, Eiki Ichihara, Kyle Gowen, Barbara J. Gitlitz, Francis J. Giles, Young Kwang Chae, Jean-Nicolas Gallant, Kartik Konduri
Supplementary Methods, Supplementary References, Supplementary Table Legends, and Supplementary Figure Legends.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d5ff55dd2169cc77c991bc6bb6e3dc5
https://doi.org/10.1158/2159-8290.22531335
https://doi.org/10.1158/2159-8290.22531335
Autor:
Christine M. Lovly, Siraj M. Ali, Vincent A. Miller, Philip J. Stephens, Jeffrey S. Ross, Deborah Morosini, Jens Meiler, Jonathan H. Sheehan, Yingjun Yan, Heidi Chen, Andrew Whiteley, Tiziana Vavalà, Beth Eaby-Sandy, Satyanarayan K. Reddy, Suresh S. Ramalingam, Vijay Peddareddigari, Taofeek K. Owonikoko, Eiki Ichihara, Kyle Gowen, Barbara J. Gitlitz, Francis J. Giles, Young Kwang Chae, Jean-Nicolas Gallant, Kartik Konduri
Supplementary Tables S1 - S3. Supplementary Table S1. Summary of EGFR alterations in NSCLC identified by FoundationOne. Supplementary Table S2. Summary of genomic coordinates for the kinase fusions identified in this study. Supplementary Table S3. Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db98bc3806deffc1adf56b29743aafdf
https://doi.org/10.1158/2159-8290.22531332
https://doi.org/10.1158/2159-8290.22531332
Autor:
Christine M. Lovly, Siraj M. Ali, Vincent A. Miller, Philip J. Stephens, Jeffrey S. Ross, Deborah Morosini, Jens Meiler, Jonathan H. Sheehan, Yingjun Yan, Heidi Chen, Andrew Whiteley, Tiziana Vavalà, Beth Eaby-Sandy, Satyanarayan K. Reddy, Suresh S. Ramalingam, Vijay Peddareddigari, Taofeek K. Owonikoko, Eiki Ichihara, Kyle Gowen, Barbara J. Gitlitz, Francis J. Giles, Young Kwang Chae, Jean-Nicolas Gallant, Kartik Konduri
Supplementary Figures S1 - S10. Supplementary Figure S1. Additional information for Patient 1. Supplementary Figure S2. Additional information for Patient 2. Supplementary Figure S3. Additional information for Patient 3. Supplementary Figure S4. Addi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48e88c6e94da7f5cc24a334b865d42c6
https://doi.org/10.1158/2159-8290.22531338.v1
https://doi.org/10.1158/2159-8290.22531338.v1
Autor:
Christine M. Lovly, Jens Meiler, Siraj M. Ali, Vincent A. Miller, Marc Ladanyi, Jennifer A. Pietenpol, Mark G. Kris, Sally J. York, Monica Red Brewer, Raghu Chandramohan, Doron Lipson, Mark Bailey, Timothy M. Shaver, Jonathan H. Sheehan, Jean-Nicolas Gallant
This document contains Supplementary Figures 1-6 and Supplementary Table 1. Supplementary Figure 1. Sequencing reads of EGFR-KDD in index patient with lung adenocarcinoma. Supplementary Figure 2. cDNA sequence of EGFR-KDD. Supplementary Figure 3. Seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81987d5401ee732e0b4df4d90938686a
https://doi.org/10.1158/2159-8290.22530768.v1
https://doi.org/10.1158/2159-8290.22530768.v1
Autor:
Christine M. Lovly, Jens Meiler, Siraj M. Ali, Vincent A. Miller, Marc Ladanyi, Jennifer A. Pietenpol, Mark G. Kris, Sally J. York, Monica Red Brewer, Raghu Chandramohan, Doron Lipson, Mark Bailey, Timothy M. Shaver, Jonathan H. Sheehan, Jean-Nicolas Gallant
This document contains Supplementary Methods, Supplementary Figure Legends, and Supplementary Table Legend.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3be2f627d6ac162459fac2741717f5ee
https://doi.org/10.1158/2159-8290.22530765.v1
https://doi.org/10.1158/2159-8290.22530765.v1